The presence of AMA in the blood or serum of a person may be indicative of the presence of, or the potential to develop, the autoimmune disease primary biliary cirrhosis (PBC; also known as primary biliary cholangitis). PBC causes scarring of liver tissue, confined primarily to the bile duct drainage system. AMA is present in about 95% of cases. PBC is seen primarily in middle-aged women, and in those afflicted with other autoimmune diseases.
Several of the antigens associated with anti-mitochondrial antibodies have been identified.
- M1 – cardiolipin
- M2 – branched-chain alpha-keto acid dehydrogenase complex
- M3 – outer mitochondrial membrane
- M4 – sulfite oxidase
- M5 – outer mitochondrial membrane
- M6 – outer mitochondrial membrane
- M7 – sarcosine dehydrogenase
- M8 – outer mitochondrial membrane
- M9 – glycogen phosphorylase
Antibodies to these specific antigens have been associated with a number of conditions: anti M2, M4, M8, and M9 are associated with primary bilary cirrhosis; M2 – autoimmune hepatitis; M1 – syphilis; M3 – drug-induced lupus erythematosus; M6 – drug-induced hepatitis; M7 – cardiomyopathy, myocarditis; M5 – systemic lupus erythematosus and undifferentiated collagenosis, autoimmune haemolytic anaemia. These associations are not completely specific and should not be relied upon solely for diagnosis.
A cause of AMA has been postulated to be that xenobiotic-induced and/or oxidative modification of mitochondrial autoantigens is a critical step leading to loss of tolerance. In acute liver failure AMA are found against all major liver antigens.
- Pyruvate dehydrogenase, E2 subunits
- 2-Oxo-glutarate dehydrogenase
- Branched-chain 2-oxo-acid dehydrogenase
- MedlinePlus Encyclopedia 003529
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